Clinical trials: Genetic Predisposition
Pheochromocytoma, Paraganglioma
Genetic Analysis of Pheochromocytomas, Paragangliomas and Associated Conditions
Pheochromocytomas and paragangliomas are neural crest-derived tumors of the nervous system that are often inherited and genetically heterogeneous.
- Conditions
- Pheochromocytoma, Paraganglioma, Inherited Cancer Syndrome, Associated Conditions
- Trial name
- NCT03160274
- Testing
- Genetic screening
- Where
- United States
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- The University of Texas Health Science Center at San Antonio
Genetic Predisposition
Initiative for Clinical Long-read Sequencing
The study aims to comprehensively introduce Long-read Genome sequencing (LR-GS) based genetic testing into clinical routine. In order to demonstrate the superiority of untargeted LR-GS over Short-read Genome sequencing (SR-GS) to…
- Trial name
- IonGER (NCT06060184)
- Testing
- Next-Generation Sequencing (NGS)
- Where
- Germany
- Volunteers
- 500 people
- Sponsor
- University Hospital Tuebingen
Ovarian Neoplasm Epithelial, Hereditary Breast and Ovarian Cancer Syndrome
Inherited Susceptible Genes Among Epithelial Ovarian Cancer
Purpose: To investigate the prevalence of the germline mutations in the BRCA 1/2 and mismatch repair genes in patients with epithelial ovarian cancer (EOC) and their relatives, and related somatic mutations in tumor tissues in…
- Trial name
- NCT03015376
- Where
- 2 sites in China
- Volunteers
- 1,000 people, healthy volunteers welcome
- Sponsor
- Peking Union Medical College Hospital
Melanoma, Spitzoid Melanoma
Identification of Risk Factors, Exposomics and Genetic Susceptibility of Melanoma in Children, Adolescents and Young Adults
The primary objective of this study is the identification of environmental and genetic factors involved in the risk and progression of melanoma in children, adolescents and young adults (CAYA).
- Conditions
- Melanoma, Spitzoid Melanoma, Congenital Nevi
- Trial name
- ExpoMel (NCT06680323)
- Where
- 6 sites in Germany, Italy and 3 more
- Volunteers
- 200 people
- Sponsor
- University Hospital Tuebingen
Histiocytosis, Langerhans-Cell
Inherited Genetic Susceptibility in Langerhans Cell Histiocytosis (LCH)
The long-term goal is to define the mechanisms of pathogenesis underlying Langerhans cell histiocytosis (LCH). The overall objectives of the current study are to characterize the role of SMAD6 inherited genetic variation on LCH…
- Trial name
- NCT04100408
- Testing
- Biospecimen Collection, Laboratory Biomarker Analysis, Questionnaire Administration
- Where
- United States
- Volunteers
- 647 people
- Sponsor
- Children's Oncology Group
Hemochromatosis, Iron Overload
MRI QSM Imaging for Iron Overload
The overall goal of this project is to develop and validate a novel technique for Magnetic Resonance Imaging (MRI)-based Quantitative Susceptibility Mapping (QSM) of the abdomen, for non-invasive assessment of liver iron…
- Trial name
- NCT04631718
- Testing
- Magnetic Resonance Imaging (MRI)-based Quantitative Susceptibility Mapping (QSM)
- Where
- 2 sites in United States
- Volunteers
- 63 people
- Sponsor
- University of Wisconsin, Madison
Rare Diseases, Genetic Predisposition
Diagnostic Research in Patients With Rare Diseases - Solving the Unsolved Rare Diseases
The DiRiP study will enroll patients (n = 3500) with unclear rare diseases and suspected genetic reasons. In group 1 (n = 500) subjects are clinically characterized in the context of outpatient/ inpatient standard care at the UKT…
- Trial name
- DiRiP-RD (NCT03491280)
- Testing
- NGS Diagnostic
- Where
- Germany
- Volunteers
- 5,500 people
- Sponsor
- University Hospital Tuebingen
Brain Tumors
International Society of Paediatric Oncology (SIOP) PNET 5 Medulloblastoma
The study PNET 5 MB has been designed for children with medulloblastoma of standard risk (according to the risk-group definitions which have been used so far; e.g. in PNET 4).
- Trial name
- NCT02066220
- Testing
- Radiotherapy without Carboplatin, Reduced-intensity maintenance chemotherapy, Radiotherapy with Carboplatin
- Where
- 77 sites in Austria, Belgium and 14 more
- Volunteers
- 360 people
- Sponsor
- Universitätsklinikum Hamburg-Eppendorf
Genes, Sporadic Chordoma
Genetic Clues to Chordoma Etiology: A Protocol to Identify Sporadic Chordoma Patients for Studies of Cancer-Susceptibility Genes
Background: Chordoma is a rare, slow growing, often fatal bone cancer derived from remnants of the embryonic notochord. It occurs mostly in the axial skeleton (skull base, vertebrae, sacrum and coccyx), is more frequent in males…
- Trial name
- NCT01200680
- Where
- United States
- Volunteers
- 188 people
- Sponsor
- National Cancer Institute (NCI)
Transfusional Iron Overload, Thalassemia Major
High-Tc Susceptometer to Monitor Transfusional Iron Overload
The proposed research project will continue the application and development of a new method (biomagnetic susceptometry) that measures magnetic fields to determine how much iron is in the liver.
- Conditions
- Transfusional Iron Overload, Thalassemia Major, Sickle Cell Disease, Myelodysplastic Syndromes
- Trial name
- NCT01241357
- Testing
- Hepatic biomagnetic susceptibility measurement
- Where
- United States
- Volunteers
- 99 people, healthy volunteers welcome
- Sponsor
- Columbia University
Hemophilia
Genetic Susceptibility to Factor VIII Inhibitors
This international study will identify genetic factors that may influence the development of inhibitory antibodies in patients with hemophilia A after treatment with factor VIII.
- Trial name
- NCT00344435
- Where
- Sweden
- Volunteers
- 1,187 people
- Sponsor
- National Cancer Institute (NCI)
Acute Lymphoblastic Leukemia, Nutrition Aspect of Cancer
InterNatIonal CHildhood Leukemia Microbiome/MEtabolome Cohort
Nutritional status is a measurable and modifiable factor that is often not considered during treatment and its clinical impact undervalued due in part to the heavy demands on clinicians in low and middle income countries to…
- Conditions
- Acute Lymphoblastic Leukemia, Nutrition Aspect of Cancer, Microtia, Genetic Predisposition
- Trial name
- NICHE (NCT05929976)
- Testing
- No intervention
- Where
- 8 sites in United States, Brazil and 4 more
- Volunteers
- 4,900 people
- Sponsor
- Columbia University
Collection of Clinical Data That Will be Used in This Study and Will Form a Data Bank for Asthma in Saudi Arabia, Identify Known and NOVEL Genetic Risk Factors Contributing to Asthma Susceptibility
Novel Gentic Variations Contributing to Asthma Susceptability in Saudi Arabia
Research Problem Asthma is one of the most common chronic diseases in the world that affects approximately 300 million individuals worldwide.
- Conditions
- Collection of Clinical Data That Will be Used in This Study and Will Form a Data Bank for Asthma in Saudi Arabia, Identify Known and NOVEL Genetic Risk Factors Contributing to Asthma Susceptibility, Study the Mechanistic Roles of the Genetic Variants Within Major Asthma Susceptibility Genes
- Trial name
- NCT01216215
- Where
- Saudi Arabia
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- King Saud University
Infectious Disease
Genetic Susceptibility to Severe Infections
Only a fraction of individuals infected with microbes develop clinical disease. This observation raises fundamental questions about the pathogenesis of infectious diseases.
- Trial name
- PREDISPOSITI (NCT06102070)
- Testing
- Blood samples drawing, Skin biopsy
- Where
- France
- Volunteers
- 2,000 people, healthy volunteers welcome
- Sponsor
- Institut National de la Santé Et de la Recherche Médicale, France
Rare Diseases, Genetic Predisposition to Disease
Genome-based Management of Patients in Precision Medicine (Ge-Med) Towards a Genomic Health Program
The GE-MED APPROACH project will enroll patients (n = appr. 12.000) with unclear molecular cause of the disease, suspected genetic cause of the disease without detailed molecular analysis like Whole Exome Sequencing (WES).
- Trial name
- GE-MED (NCT04760522)
- Testing
- WGS Diagnostic: Blood take for genetic diagnostic
- Where
- Germany
- Volunteers
- 12,000 people
- Sponsor
- University Hospital Tuebingen
Cystic Fibrosis, Venous Thrombosis
Cystic Fibrosis and Totally Implantable Vascular Access Devices
The purpose of this study is to evaluate the incidence of venous thrombosis occurring on totally implantable vascular access devices in cystic fibrosis patients who need a new device (it can be the first one or a subsequent one)…
- Trial name
- RITHM (NCT00244270)
- Testing
- totally implantable vascular access device
- Volunteers
- 97 people
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Primary Immunodeficiency, DOCK8
Establishing Fibroblast-Derived Cell Lines From Skin Biopsies of Patients With Immunodeficiency or Immunodysregulation Disorders
Background: National Institutes of Health (NIH) researchers have been studying immune cells (white blood cells) to better understand how the human body s defense system works and adjusts or regulates itself, and how changes in…
- Conditions
- Primary Immunodeficiency, DOCK8, Virus Susceptibility
- Trial name
- NCT00895271
- Where
- United States
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- National Institute of Allergy and Infectious Diseases (NIAID)
Bronchopulmonary Dysplasia
Genetic Susceptibility for Bronchopulmonary Dysplasia in Preterm Infants
Despite considerable obstetric and neonatal advances in the care of very low birth weight (VLBW) neonates, bronchopulmonary dysplasia (BPD) continues to occur among 20 to 40% of surviving infants, and new ways for combatting this…
- Trial name
- GENBPD (NCT00904774)
- Where
- France
- Volunteers
- 800 people
- Sponsor
- Centre Hospitalier Intercommunal Creteil
Polymorphism, Genetic, Bacterial Infections
The Association of Gene Polymorphisms With Invasive Bacterial Infections in Neonates and Young Infants
Invasive bacterial infections (IBIs) are globally significant, with high mortality rates, particularly within the critical 0-3 month age bracket.
- Conditions
- Polymorphism, Genetic, Bacterial Infections, Infant
- Trial name
- NCT06985160
- Testing
- Specific single nucleotide polymorphisms
- Where
- 2 sites in Turkey (Türkiye)
- Volunteers
- 200 people, healthy volunteers welcome
- Sponsor
- Ege University
Genetic Predisposition to Disease, Celiac Disease
Gluten-free Diet in Gluten-genetically Predisposed Subjects
Undetected or untreated CD may cause severe complications later in life, such as autoimmune disorders. It is recommended for subjects with autoimmune diseases or at risk for CD to be screened for CD and to repeat serological…
- Trial name
- NCT00677495
- Testing
- Gluten-free diet
- Where
- Italy
- Volunteers
- 30 people
- Sponsor
- IRCCS Burlo Garofolo